The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

Abstract Background Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing....

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Bibliographic Details
Main Authors: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Genome Medicine
Subjects:
Sudden death in the young
Genome sequencing
Epilepsy
Arrhythmia
Cardiomyopathy
Gene burden
Online Access:https://doi.org/10.1186/s13073-024-01284-w

Internet

https://doi.org/10.1186/s13073-024-01284-w

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